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Cellosaurus SDQLCHi053-A (CVCL_C8DX)

[Text version]
Cell line name SDQLCHi053-A
Accession CVCL_C8DX
Resource Identification Initiative To cite this cell line use: SDQLCHi053-A (RRID:CVCL_C8DX)
Comments From: Qilu Children's Hospital of Shandong University; Jinan; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 11497; SYNGAP1; Simple; p.Arg143Ter (c.427C>T); ClinVar=VCV000060716; Zygosity=Heterozygous (PubMed=37385133).
Disease Mental retardation, autosomal dominant 5 (NCIt: C178414)
Autosomal dominant non-syndromic intellectual disability (ORDO: Orphanet_178469)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 2Y10M
Category Induced pluripotent stem cell
Publications

PubMed=37385133; DOI=10.1016/j.scr.2023.103132
Wang Y.-X., Yang X.-M., Zhang H.-Y., Liu N., Liu Y., Gai Z.-T., Liu Y., Lv Y.-Q.
Generation of a transgene-free iPS cell line (SDQLCHi053-A) from a young girl carrying a heterozygous mutation (c.427C > T) in SYNGAP1 gene.
Stem Cell Res. 71:103132-103132(2023)

Cross-references
Cell line databases/resources hPSCreg; SDQLCHi053-A
Encyclopedic resources Wikidata; Q123033460
Entry history
Entry creation29-Jun-2023
Last entry update30-Jan-2024
Version number3